Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 22 8.3E-02 1 4.0E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 41 8.2E-02 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 0 16 8.2E-02 0 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 16 8.2E-02 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 62 8.1E-02 2 2.3E-02
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		48 0 11 8.1E-02 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 16 14 8.0E-02 1 4.3E-02
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 0 15 7.9E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 50 7.9E-02 2 3.4E-02
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		38 0 10 7.9E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 25 7.7E-02 0 0
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		55 0 11 7.7E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 20 7.7E-02 1 3.1E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 33 7.6E-02 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 10 12 7.6E-02 1 5.9E-02
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 16 7.5E-02 0 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		15 0 8 7.5E-02 0 0
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		58 19 11 7.5E-02 1 3.8E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 41 7.5E-02 2 2.9E-02
CUI: C1301937
Disease: Talipes
Talipes 		74 0 12 7.5E-02 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 19 7.4E-02 1 3.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 47 7.3E-02 1 1.2E-02
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		77 0 12 7.3E-02 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 21 7.3E-02 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		79 8 12 7.2E-02 1 6.7E-02